Bibliotecas PUC-SP - Busca Integrada

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

Por Rebecca S. Tooze, Eduardo Calpena, Astrid Weber, Louise C. Wilson, Stephen R. F. Twigg, Andrew O. M. Wilkie
Publicado no Genes (2023-02-01)

Neuronal damage after moderate hypoxia and erythropoietin

Por Astrid Weber, Mark Dzietko, Monika Berns, Ursula Felderhoff-Mueser, Uwe Heinemann, Rolf F. Maier, Michael Obladen, Chrissanthi Ikonomidou, Christoph Bührer
Publicado no Neurobiology of Disease (2005-11-01)

Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation

Por Rema Ramakrishnan, Corinne Mallinson, Steven Hardy, Jennifer Broughan, Maisie Blyth, Gabriella Melis, Catherine Franklin, Melissa Hill, Melissa Hill, Rhiannon Mellis, Rhiannon Mellis, Wing Han Wu, Wing Han Wu, Stephanie Allen, Lyn S. Chitty, Lyn S. Chitty, Marian Knight, EXPRESS Clinical Outcomes Group, Ruth Armstrong, Tazeen Ashraf, Ana Beleza-Meireles, Marta Bertoli, Lucy Bownass, Jennifer Campbell, Natalie Canham, Ruth Cleaver, Jan Cobben, Jacqueline Eason, Nour Elkhateeb, Alice Gardham, Alice Garrett, Sara Hillman, Emma Hobson, Simon Holden, Muriel Holder-Espinasse, Tessa Homfray, Monika Kosicka-Slawinska, Alison Male, Sahar Mansour, Sarju G. Mehta, Cathryn Moss, Jessica Myring, Pranav Pandya, Katrina Prescott, Lorna Randall, Sarah Richardson, Alexander Ross, Alison Stewart, Dagmar Tapon, Hannah Titheradge, Pradeep Vasudevan, Astrid Weber, Louise Wilson
Publicado no Frontiers in Genetics (2024-11-01)

‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandem...

Por Diana Baralle, Susan Walker, Ramya Srinivasan, Sarah Davies, Shelagh Joss, Jonathan Berg, Miranda Splitt, Usha Kini, Pradeep Vasudevan, John Dean, William Newman, Yanick Crow, Beverly Searle, Julian Barwell, Lyn Chitty, Peter Holmans, Sarah Law, Virginia Clowes, Rachel Harrison, Muriel Holder, Sahar Mansour, Spiros Denaxas, Ellie Kerry, Frances Flinter, Zheng Ye, Julia Rankin, Oliver Quarrell, Nicola Lewis, Anne Lampe, Astrid Weber, David Skuse, Kate Baker, Annie Procter, Jeremy Hall, Alison Kraus, Neil Walker, Jeanne Wolstencroft, Laura Hull, Lauren Warner, Tooba Nadeem Akhtar, William Mandy, Eleanor Dewhurst, Amy Lafont, F Lucy Raymond, Terry Shirley, Hayley Tilley, Husne Timur, Catherine Titterton, Sarah Wallwork, Francesca Wicks, Marie Erwood, Sophie Andrews, Philippa Birch, Samantha Bowen, Karen Bradley, Aimee Challenger, Samuel Chawner, Andrew Cuthbert, Sinead Morrison, Hayley Moss, Michael Owen, Sinead Ray, Matthew Sopp, Molly Tong, Marianne van den Bree, Nadia Coscini, Hayley Denyer, Nasrtullah Fatih, Manoj Juj, Anna Lucock, Frida Printzlau, Alice Watkins, Anna Pelling, Lisa Robertson, Denise Williams Alan, Donaldson Lucy, Fleur van Dijk
Publicado no BMJ Open (2021-09-01)